Phenotype #0000203883

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00266103
Associated disease	IMD
Phenotype details	infection with EBV, enteroviral encephalitis, prolonged diarrhea; hemolytic anemia, thrombocytopenia; lymphadenopathy, hepatosplenomegaly; muscular hypotonia, partial iris hypoplasia, abnormal dental enamel, nephrotic syndrome; 18m-died from encephalitis
Diagnosis/Initial	immunodeficiency
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	IMD-10
Age/Examination	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-10-12 17:12:29 +02:00 (CEST)
Date last edited	N/A

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